Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | AICDA CL E G H | 57379 | 605258 | Immunodeficiency with hyper IgM type 2 | 605258 | C1720956 | OMIM | 1 | | 248 | 13203 | 605257 |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | NBN CL E G H | 4683 | 251260 | Microcephaly, normal intelligence and immunodeficiency | 251260 | C0398791 | OMIM | 1 | | 3250 | 7652 | 602667 |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | NFKBIA CL E G H | 4792 | 612132 | Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant | 612132 | C2677481 | OMIM | 1 | | 262 | 7797 | 164008 |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | POLA1 CL E G H | 5422 | 301220 | Pigmentary disorder, reticulate, with systemic manifestations, X-linked | 301220 | C1845050 | OMIM | 1 | | 633 | 9173 | 312040 |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | TNFRSF13B CL E G H | 23495 | 609529 | Immunoglobulin A deficiency 2 | 609529 | C1836032 | OMIM | 1 | | 404 | 18153 | 604907 |
HP:0004798 | HP:0005215 | Frequent Giardia lamblia infestation | 1 | AICDA CL E G H | 57379 | 605258 | Immunodeficiency with hyper IgM type 2 | 605258 | C1720956 | OMIM | 1 | | 248 | 13203 | 605257 |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | AICDA CL E G H | 57379 | 605258 | Immunodeficiency with hyper IgM type 2 | 605258 | C1720956 | OMIM | 1 | | 248 | 13203 | 605257 |
HP:0004798 | HP:0005202 | Helicobacter pylori infection | 1 | AICDA CL E G H | 57379 | 605258 | Immunodeficiency with hyper IgM type 2 | 605258 | C1720956 | OMIM | 1 | | 248 | 13203 | 605257 |
HP:0004798 | HP:0005215 | Frequent Giardia lamblia infestation | 1 | NBN CL E G H | 4683 | 251260 | Microcephaly, normal intelligence and immunodeficiency | 251260 | C0398791 | OMIM | 1 | | 3250 | 7652 | 602667 |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | NBN CL E G H | 4683 | 251260 | Microcephaly, normal intelligence and immunodeficiency | 251260 | C0398791 | OMIM | 1 | | 3250 | 7652 | 602667 |
HP:0004798 | HP:0005202 | Helicobacter pylori infection | 1 | NBN CL E G H | 4683 | 251260 | Microcephaly, normal intelligence and immunodeficiency | 251260 | C0398791 | OMIM | 1 | | 3250 | 7652 | 602667 |
HP:0004798 | HP:0005215 | Frequent Giardia lamblia infestation | 1 | NFKBIA CL E G H | 4792 | 612132 | Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant | 612132 | C2677481 | OMIM | 1 | | 262 | 7797 | 164008 |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | NFKBIA CL E G H | 4792 | 612132 | Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant | 612132 | C2677481 | OMIM | 1 | | 262 | 7797 | 164008 |
HP:0004798 | HP:0005202 | Helicobacter pylori infection | 1 | NFKBIA CL E G H | 4792 | 612132 | Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant | 612132 | C2677481 | OMIM | 1 | | 262 | 7797 | 164008 |
HP:0004798 | HP:0005215 | Frequent Giardia lamblia infestation | 1 | POLA1 CL E G H | 5422 | 301220 | Pigmentary disorder, reticulate, with systemic manifestations, X-linked | 301220 | C1845050 | OMIM | 1 | | 633 | 9173 | 312040 |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | POLA1 CL E G H | 5422 | 301220 | Pigmentary disorder, reticulate, with systemic manifestations, X-linked | 301220 | C1845050 | OMIM | 1 | | 633 | 9173 | 312040 |
HP:0004798 | HP:0005202 | Helicobacter pylori infection | 1 | POLA1 CL E G H | 5422 | 301220 | Pigmentary disorder, reticulate, with systemic manifestations, X-linked | 301220 | C1845050 | OMIM | 1 | | 633 | 9173 | 312040 |
HP:0004798 | HP:0005215 | Frequent Giardia lamblia infestation | 1 | TNFRSF13B CL E G H | 23495 | 609529 | Immunoglobulin A deficiency 2 | 609529 | C1836032 | OMIM | 1 | | 404 | 18153 | 604907 |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | TNFRSF13B CL E G H | 23495 | 609529 | Immunoglobulin A deficiency 2 | 609529 | C1836032 | OMIM | 1 | | 404 | 18153 | 604907 |
HP:0004798 | HP:0005202 | Helicobacter pylori infection | 1 | TNFRSF13B CL E G H | 23495 | 609529 | Immunoglobulin A deficiency 2 | 609529 | C1836032 | OMIM | 1 | | 404 | 18153 | 604907 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 0 | | 339 | 18620 | 606976 |
HP:0004798 | HP:0004798 | Recurrent infection of the gastrointestinal tract | 0 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 0 | | 339 | 18620 | 606976 |
HP:0004798 | HP:0005215 | Frequent Giardia lamblia infestation | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 0 | | 339 | 18620 | 606976 |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 0 | | 339 | 18620 | 606976 |
HP:0004798 | HP:0005202 | Helicobacter pylori infection | 1 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 0 | | 339 | 18620 | 606976 |
HP:0004798 | HP:0005215 | Frequent Giardia lamblia infestation | 1 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 0 | | 339 | 18620 | 606976 |
HP:0004798 | HP:0031123 | Recurrent gastroenteritis | 1 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 0 | | 339 | 18620 | 606976 |
HP:0004798 | HP:0005202 | Helicobacter pylori infection | 1 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 0 | | 339 | 18620 | 606976 |